CYP7B1 Antibody – Goat Polyclonal

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway of extrahepatic tissues, which converts cholesterol to bile acids. This enzyme likely plays a minor role in total bile acid synthesis, but may also be involved in the development of atherosclerosis, neurosteroid metabolism and sex hormone synthesis. Mutations in this gene have been associated with hereditary spastic paraplegia (SPG5 or HSP), an autosomal recessive disorder. [provided by RefSeq, Apr 2016]

CYP7B1: Defects in CYP7B1 are the cause of spastic paraplegia autosomal recessive type 5A (SPG5A). Spastic paraplegia is a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Defects in CYP7B1 are the cause of congenital bile acid synthesis defect type 3 (CBAS3). Clinical features include severe cholestasis, cirrhosis and liver synthetic failure. Hepatic microsomal oxysterol 7-alpha-hydroxylase activity is undetectable. Belongs to the cytochrome P450 family.

Protein type: EC 1.14.13.100; Endoplasmic reticulum; Lipid Metabolism - primary bile acid biosynthesis; Oxidoreductase

Chromosomal Location of Human Ortholog: 8q12.3

Cellular Component: endoplasmic reticulum membrane

Molecular Function: oxysterol 7-alpha-hydroxylase activity

Biological Process: bile acid biosynthetic process; sterol metabolic process

Disease: Bile Acid Synthesis Defect, Congenital, 3; Spastic Paraplegia 5a, Autosomal Recessive